ClinVar Miner

List of variants in gene GCK reported as benign for disorder of glycolysis

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_000162.5(GCK):c.46-4521C>A rs2070971 0.23160
NM_000162.5(GCK):c.209-236G>T rs2971677 0.22722
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_000162.5(GCK):c.864-105G>A rs139242745 0.00743
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000162.5(GCK):c.46-4952G>A rs76178320 0.00639
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000162.5(GCK):c.483+14A>G rs74852379 0.00229
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00038
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000162.5(GCK):c.208+16C>T rs377747439 0.00018
NM_000162.5(GCK):c.-17C>T rs190731555 0.00017
NM_000162.5(GCK):c.735G>A (p.Glu245=) rs775481896 0.00016
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000162.5(GCK):c.561C>T (p.Asp187=) rs754722633 0.00006
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000162.5(GCK):c.363+6C>A rs751756042 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.-135G>A rs746492953 0.00003
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.-5T>C rs193922251 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000162.3(GCK):c.-487C>G rs1329261791 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.348C>T (p.Thr116=) rs770145567 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.129C>T (p.Arg43=) rs760912915 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 0.00001
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-449G>T rs1375544246
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1019+16G>T rs193922256
NM_000162.5(GCK):c.1019+275del rs5883890
NM_000162.5(GCK):c.108G>A (p.Arg36=) rs754169218
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.137G>A (p.Arg46Lys) rs1064796993
NM_000162.5(GCK):c.183C>T (p.Tyr61=) rs780612692
NM_000162.5(GCK):c.208+9T>A rs193922288
NM_000162.5(GCK):c.333C>G (p.Pro111=) rs61736250
NM_000162.5(GCK):c.45+11C>G rs193922298
NM_000162.5(GCK):c.46-4438C>T rs41282712
NM_000162.5(GCK):c.46-4621C>T rs1562722328
NM_000162.5(GCK):c.483+10G>A rs1554335560
NM_000162.5(GCK):c.540T>C (p.Asn180=) rs1554335444
NM_000162.5(GCK):c.579+8G>A rs1562717232
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.680-15C>T rs369345791
NM_000162.5(GCK):c.792C>T (p.Gly264=) rs754094813

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